HUMAN

CYTOGENETICS
BBC1-K8

DR. KAMAJAYA,MSc,SpAnd.
DEPT. BIOLOGI FK-USU, MEDAN

HUMAN CHROMOSOMES
46 Chromosomes somatic ( 2n )
= 22 pair of Autosomes
+ XX Sex-chrom.

+ XY Sex-chrom.
23 Chromosomes gametic ( n ).
= 22 Autosomes + X / Y Sex-chrom.

SEX-CHROMATIN.
A. Barr-body.

SEX-CHROMATIN.
b. Drumb-stick.

FLUORESCENT-BODY.

LYON-HYPOTHESIS.
1. Bila dlm sbh sel terdpt 2 / lbh kromosom-X,
Krom-X yg lebih piknotik.
2. Kromosom piknotik inaktif secara genetik
3. Kromosom-X inaktif mencegah dosis berganda
4. Jumlah Sex-chromatin P = (jlh krom-X) - 1.
5. Kromosom-X yg piknotik random.
6. Pd anak sel, krom-X piknotik klon.

Chromosomeanalysis.
A. Cell-samples.
1. Lymphocytes.
2. Bone-marrow cells.
3. Fibroblast.
4. Amniotic fibroblast.
5. Throphoblast.

Chromosomeanalysis.

B. Lymphocyte culture.

1. Sampel : darah perifer.

2. Media : HAM F-10, TC-199, dll.
3. Stimulasi Mitosis : PHA, Concovalin-A.
4. Anti-kontaminasi bakteri dan jamur.
5. Kultur di inkubator suhu = 37oC,
95% CO2 & 5% O2.
6. Lama kultur 67 jam.

Chromosome
analysis.
C. Harvest, preparation & staining.
1. Harvest : - Washing Buffer,
- Bulging
KCl 1%,
- Fixation.
2. Preparation.
3. Staining : a. Normal Giemsa,
b. Banding staining :
- Trypsin-Giemsa
banding.
- Fluorescent-banding.

NORMAL HUMAN CHROMOSOME

The chromosome

Tipe-tipe kromosom manusia normal

p-arm
centromere

q-arm
1

1. Metacentric chromosome
2. Submetacentric chromosome
3. Acrocentric chromosome

Human Karyotype.

Human Karyogram.

Human Banding
Chromosome.